Canonical Allele Identifier: CA450744236

Gene: EYS

Linked Data

• dbSNP Id: rs1280775639
• gnomAD v2: 6-64694377-T-C
• gnomAD v4: 6-63984484-T-C
• MyVariant Identifiers: chr6:g.64694377T>C (hg19) ; chr6:g.63984484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984484T>C , CM000668.2:g.63984484T>C	GRCh38
NC_000006.11:g.64694377T>C , CM000668.1:g.64694377T>C	GRCh37
NC_000006.10:g.64752336T>C	NCBI36
NG_023443.1:g.1727742A>G
NG_023443.2:g.1727742A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6954A>G MANE Select	ENSP00000424243.1:p.Glu2318=
ENST00000370616.6:c.6954A>G	ENSP00000359650.2:p.Glu2318=
ENST00000370618.7:c.6954A>G	ENSP00000359652.4:p.Glu2318=
ENST00000370621.7:c.6954A>G	ENSP00000359655.3:p.Glu2318=
ENST00000398580.3:c.268A>G
ENST00000503581.5:c.6954A>G	ENSP00000424243.1:p.Glu2318=
NM_001142800.1:c.6954A>G	NP_001136272.1:p.Glu2318=
NM_001292009.1:c.6954A>G	NP_001278938.1:p.Glu2318=
XR_001744188.1:n.606+16200T>C
XR_001744189.1:n.129+16200T>C
XR_001744190.1:n.197+16200T>C
XR_001744191.1:n.607-1170T>C
NM_001142800.2:c.6954A>G MANE Select	NP_001136272.1:p.Glu2318=
NM_001292009.2:c.6954A>G	NP_001278938.1:p.Glu2318=